Ann Pediatr Endocrinol Metab.  2013 Sep;18(3):111-115. 10.6065/apem.2013.18.3.111.

Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation

• Choi BH
• Kim UH
• Lee KS
• Ko CW

• KMID: 2266361
• DOI: http://doi.org/10.6065/apem.2013.18.3.111

Abstract

PURPOSE
45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children.
METHODS
Between January 2007 and December 2012, children diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype by chromosome analysis were analyzed retrospectively.
RESULTS
Eight children (5 boys and 3 girls) were diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD) (partial) and 1 idiopathic short stature. As shown here t(13;14)(q10;q10) Robertsonian translocation shows a wide range of phenotypes.
CONCLUSION
It can be said that t(13;14)(q10;q10) Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.

Keyword

Genetic translocation; Endocrine system diseases; Child

MeSH Terms

Child*
Endocrine System Diseases*
Female
Growth Hormone
Humans
Hypogonadism
Karyotype
Male
Phenotype
Puberty
Puberty, Precocious
Translocation, Genetic*
Growth Hormone

Figure

• 

  Fig. 1 (A) Karyotype of a 12-year-old boy with hypogonadotrophic hypogonadism. (B) Karyotype of a 8-year-old girl with precocious puberty. Arrows indicate abnormal chromosomes.

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  Fig. 2 Pedigree chart of all families. Solid symbols represent affected individuals; open symbols, unaffected individuals; +, individuals with t(13;14)(q10;q10); -, individual with negative chromosome study. Only members assigned letters A through H were evaluated. A, a boy with hypogonadotrophic hypogonadism; B, a girl with growth hormone deficiency (partial); C-III, a boy with early puberty; D-III, a girl with central precocious puberty; E-III, a boy with early puberty; F, a girl with early puberty; G-III, a boy with growth hormone deficiency(partial); H, a boy with idiopathic short stature.

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  Fig. 3 (A) Brain magnetic resonance imaging (MRI) of case A with hypogonodotrophic hypogonadism. No anatomical abnormalities are detected in brain MRI. (B) Brain MRI of case B with growth hormone deficiency. MRI of the hypothalamic pituitary region is normal. (C) Brain MRI of case G with growth hormone deficiency. Brain MRI doesn't detect any abnormality.

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